TY - JOUR
T1 - Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency
AU - Hibino, Makoto
AU - Sakai, Yoshimasa
AU - Kato, Wataru
AU - Tanaka, Keisuke
AU - Tajima, Kazuyoshi
AU - Yokoyama, Takehiko
AU - Iwasa, Mitsuji
AU - Morisaki, Hiroko
AU - Tsuzuki, Toyonori
AU - Usui, Akihiko
N1 - Publisher Copyright:
© 2018 The Society of Thoracic Surgeons
PY - 2018/2
Y1 - 2018/2
N2 - EFEMP2 (alias FBLN4) encodes extracellular matrix protein fibulin-4, and its mutation is associated with autosomal recessive cutis laxa type 1B and leads to severe aortopathy with aneurysm formation and vascular tortuosity. A 4-month-old child presented with a large ascending aortic aneurysm, and genetic testing revealed an EFEMP2 mutation. We achieved successful repair of the ascending aortic aneurysm at 33 months of age and report the macroscopic and microscopic findings.
AB - EFEMP2 (alias FBLN4) encodes extracellular matrix protein fibulin-4, and its mutation is associated with autosomal recessive cutis laxa type 1B and leads to severe aortopathy with aneurysm formation and vascular tortuosity. A 4-month-old child presented with a large ascending aortic aneurysm, and genetic testing revealed an EFEMP2 mutation. We achieved successful repair of the ascending aortic aneurysm at 33 months of age and report the macroscopic and microscopic findings.
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U2 - 10.1016/j.athoracsur.2017.08.041
DO - 10.1016/j.athoracsur.2017.08.041
M3 - Article
C2 - 29362193
AN - SCOPUS:85041291286
SN - 0003-4975
VL - 105
SP - e59-e61
JO - Annals of Thoracic Surgery
JF - Annals of Thoracic Surgery
IS - 2
ER -